المؤلفون: Dunham, I, Shimizu, N, Roe, BA, Chissoe, S, Hunt, AR, Collins, JE, Bruskiewich, R, Beare, DM, Clamp, M, Smink, LJ, Ainscough, R, Almeida, JP, Babbage, A, Bagguley, C, Balley, J, Barlow, K, Bates, KN, Beasley, O, Bird, CP, Blakey, S, Bridgeman, AM, Buck, D, Burgess, J, Burrill, WD, Burton, J, Carder, C, Carter, NP, Chen, Y, Clark, G, Clegg, SM, Cobley, V, Cole, CG, Collier, RE, Connor, RE, Conroy, D, Corby, N, Coville, GJ, Cox, AV, Davis, J, Dawson, E, Dhami, PD, Dockree, C, Dodsworth, SJ, Durbin, RM, Ellington, A, Evans, KL, Fey, JM, Fleming, K, French, L, Garner, AA, Gilbert, JGR, Goward, ME, Grafham, D, Griffiths, MN, Hall, C, Hall, R, Hall-Tamlyn, G, Heathcott, RW, Ho, S, Holmes, S, Hunt, SE, Jones, MC, Kershaw, J, Kimberley, A, King, A, Laird, GK, Langford, CF, Leversha, MA, Lloyd, C, Lloyd, DM, Martyn, ID, Mashreghi-Mohammadi, M, Matthews, L, McCann, OT, McClay, J, McLaren, S, McMurray, AA, Milne, SA, Mortimore, BJ, Odell, CN, Pavitt, R, Pearce, AV, Pearson, D, Phillimore, BJ, Phillips, SH, Plumb, RW, Ramsay, H, Ramsey, Y, Rogers, L, Ross, MT, Scott, CE, Sehra, HK, Skuce, CD, Smalley, S, Smith, ML, Soderlund, C, Spragon, L, Steward, CA, Sulston, JE, Swann, RM, Vaudin, M, Wall, M, Wallis, JM, Whiteley, MN, Willey, D, Williams, L, Williams, S, Williamson, H, Wilmer, TE, Wilming, L, Wright, CL, Hubbard, T, Bentley, DR, Beck, S, Rogers, J, Minoshima, S, Kawasaki, K, Sasaki, T, Asakawa, S, Kudoh, J, Shintani, A, Shibuya, K, Yoshizaki, Y, Aoki, N, Mitsuyama, S, Chen, F, Chu, L, Crabtree, J, Deschamps, S, Do, A, Do, T, Dorman, A, Fang, F, Fu, Y, Hu, P, Hua, A, Kenton, S, Lai, H, Lao, HI, Lewis, J, Lewis, S, Lin, SP, Loh, P, Malaj, E, Nguyen, T, Pan, H, Phan, S, Qi, S, Qian, Y, Ray, L, Ren, Q, Shaull, S, Sloan, D, Song, L, Wang, Q, Wang, Y, Wang, Z, White, J, Willingham, D, Wu, H, Yao, Z, Zhan, M, Zhang, G, Murray, J, Miller, N, Minx, P, Fulton, R, Johnson, D, Bemis, G, Bentley, D, Bradshaw, H, Bourne, S, Cordes, M, Du, Z, Fulton, L, Goela, D, Graves, T, Hawkins, J, Hinds, K, Kemp, K, Latreille, P, Layman, D, Ozersky, P, Rohlfing, T, Scheet, P, Walker, C, Wamsley, A, Wohldmann, P, Pepin, K, Nelson, J, Korf, I, Bedell, JA, Hillier, L, Mardis, E, Waterston, R, Wilson, R, Emanuel, BS, Shaikh, T, Kurahashi, H, Saitta, S, Budarf, ML, McDermid, HE, Johnson, A, Wong, ACC, Morrow, BE, Edelman, L, Kim, UJ, Shizuya, H, Simon, MI, Dumanski, JP, Peyrard, M, Kedra, D, Seroussi, E, Fransson, I, Tapia, I, Bruder, CE, O'Brien, KP

المصدر: Nature. 402(6761):489-495

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:11546908Test

المؤلفون: Gabora, Dr. Liane M.

المساهمون: Bentley, Dr. R. A., Maschner, Dr. H. D. G., Chippendale, Dr. C.

المصدر: Gabora, Dr. Liane M. (2007) Mind. [Book Chapter]

مصطلحات موضوعية: Biology: Behavioral Biology, Computer Science: Complexity Theory, Psychology: Evolutionary Psychology, Behavioral Biology, Complexity Theory, Evolutionary Psychology

وصف الملف: text/html

الوصول الحر: http://cogprints.org/5960Test/

المؤلفون: Dolzhenko, E, Bennett, MF, Richmond, PA, Trost, B, Chen, S, van Vugt, JJFA, Nguyen, C, Narzisi, G, Gainullin, VG, Gross, AM, Lajoie, BR, Taft, RJ, Wasserman, WW, Scherer, SW, Veldink, JH, Bentley, DR, Yuen, RKC, Bahlo, M, Eberle, MA

العلاقة: pii: 10.1186/s13059-020-02017-z; Dolzhenko, E., Bennett, M. F., Richmond, P. A., Trost, B., Chen, S., van Vugt, J. J. F. A., Nguyen, C., Narzisi, G., Gainullin, V. G., Gross, A. M., Lajoie, B. R., Taft, R. J., Wasserman, W. W., Scherer, S. W., Veldink, J. H., Bentley, D. R., Yuen, R. K. C., Bahlo, M. & Eberle, M. A. (2020). ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data. GENOME BIOLOGY, 21 (1), https://doi.org/10.1186/s13059-020-02017-zTest.; http://hdl.handle.net/11343/246361Test

الإتاحة: https://doi.org/10.1186/s13059-020-02017-zTest
http://hdl.handle.net/11343/246361Test

المؤلفون: Turro, E, Astle, WJ, Megy, K, Gräf, S, Greene, D, Shamardina, O, Allen, HL, Sanchis-Juan, A, Frontini, M, Thys, C, Stephens, J, Mapeta, R, Burren, OS, Downes, K, Haimel, M, Tuna, S, Deevi, SVV, Aitman, TJ, Bennett, DL, Calleja, P, Carss, K, Caulfield, MJ, Chinnery, PF, Dixon, PH, Gale, DP, James, R, Koziell, A, Laffan, MA, Levine, AP, Maher, ER, Markus, HS, Morales, J, Morrell, NW, Mumford, AD, Ormondroyd, E, Rankin, S, Rendon, A, Richardson, S, Roberts, I, Roy, NBA, Saleem, MA, Smith, KGC, Stark, H, Tan, RYY, Themistocleous, AC, Thrasher, AJ, Watkins, H, Webster, AR, Wilkins, MR, Williamson, C, Whitworth, J, Humphray, S, Bentley, DR, NIHR BioResource for the 100,000 Genomes Project, ., Kingston, N, Walker, N, Bradley, JR, Ashford, S, Penkett, CJ, Freson, K, Stirrups, KE, Raymond, FL, Ouwehand, WH

المصدر: Nature , 583 pp. 96-102. (2020)

مصطلحات موضوعية: Computational biology and bioinformatics, Disease genetics, Genetics research

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10103489/1/Gale_Whole-genome%20sequencing%20of%20patients%20with%20rare%20diseases%20in%20a%20national%20health%20system_AAM.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10103489Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10103489/1/Gale_Whole-genome%20sequencing%20of%20patients%20with%20rare%20diseases%20in%20a%20national%20health%20system_AAM.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10103489Test/

المؤلفون: Dolzhenko, E, Deshpande, V, Schlesinger, F, Krusche, P, Petrovski, R, Chen, S, Emig-Agius, D, Gross, A, Narzisi, G, Bowman, B, Scheffler, K, van Vugt, JJFA, French, C, Sanchis-Juan, A, Ibanez, K, Tucci, A, Lajoie, BR, Veldink, JH, Raymond, FL, Taft, RJ, Bentley, DR, Eberle, MA

وصف الملف: 4754 - 4756

العلاقة: BIOINFORMATICS; https://qmro.qmul.ac.uk/xmlui/handle/123456789/68008Test

الإتاحة: https://doi.org/10.1093/bioinformatics/btz431Test
https://qmro.qmul.ac.uk/xmlui/handle/123456789/68008Test

المؤلفون: Robbe, P, Popitsch, N, Knight, SJL, Antoniou, P, Becq, J, He, M, Kanapin, A, Samsonova, A, Vavoulis, DV, Ross, MT, Kingsbury, Z, Cabes, M, Ramos, SDC, Page, S, Dreau, H, Ridout, K, Jones, LJ, Tuff-Lacey, A, Henderson, S, Mason, J, Buffa, FM, Verrill, CL, Maldonado-Perez, D, Roxanis, I, Collantes, E, Browning, L, Dhar, S, Damato, SP, Davies, S, Caulfield, M, Bentley, DR, Taylor, JC, Turnbull, C, Schuh, A

العلاقة: https://ora.ox.ac.uk/objects/uuid:8f2edd6a-1ede-4df1-8827-bca63b0d3d9bTest; https://doi.org/10.1038/gim.2017.241Test

الإتاحة: https://doi.org/10.1038/gim.2017.241Test
https://ora.ox.ac.uk/objects/uuid:8f2edd6a-1ede-4df1-8827-bca63b0d3d9bTest

المؤلفون: Vetrie, D, Vorechovsky, I, Sideras, P, Holland, J, Davies, A, Flinter, F, Hammarstrom, L, Kinnon, C, Levinsky, R, Bobrow, M, Smith, CIE, Bentley, DR

المصدر: Journal of immunology (Baltimore, Md. : 1950). 188(7):2948-2955

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:124348709Test

المؤلفون: Pereira, B, Chin, S-F, Rueda, OM, Vollan, H-KM, Provenzano, E, Bardwell, HA, Pugh, M, Jones, L, Russell, R, Sammut, S-J, Tsui, DWY, Liu, B, Dawson, S-J, Abraham, J, Northen, H, Peden, JF, Mukherjee, A, Turashvili, G, Green, AR, McKinney, S, Oloumi, A, Shah, S, Rosenfeld, N, Murphy, L, Bentley, DR, Ellis, IO, Purushotham, A, Pinder, SE, Borresen-Dale, A-L, Earl, HM, Pharoah, PD, Ross, MT, Aparicio, S, Caldas, C

العلاقة: pii: ncomms11479; Pereira, B., Chin, S. -F., Rueda, O. M., Vollan, H. -K. M., Provenzano, E., Bardwell, H. A., Pugh, M., Jones, L., Russell, R., Sammut, S. -J., Tsui, D. W. Y., Liu, B., Dawson, S. -J., Abraham, J., Northen, H., Peden, J. F., Mukherjee, A., Turashvili, G., Green, A. R. ,. Caldas, C. (2016). The somatic mutation profiles of 2,433 breast cancers refines their genomic and transcriptomic landscapes. NATURE COMMUNICATIONS, 7 (1), https://doi.org/10.1038/ncomms11479Test.; http://hdl.handle.net/11343/259396Test

الإتاحة: https://doi.org/10.1038/ncomms11479Test
http://hdl.handle.net/11343/259396Test

المؤلفون: Altshuler, DM, Durbin, RM, Abecasis, GR, Bentley, DR, Chakravarti, A, Clark, AG, Donnelly, P, Eichler, EE, Flicek, P, Gabriel, SB, Gibbs, RA, Green, ED, Hurles, ME, Knoppers, BM, Korbel, JO, Lander, ES, Lee, C, Lehrach, H, Mardis, ER, Marth, GT, McVean, GA, Nickerson, DA, Schmidt, JP, Sherry, ST, Wang, J, Wilson, RK, Boerwinkle, E, Doddapaneni, H, Han, Y, Korchina, V, Kovar, C, Lee, S, Muzny, D, Reid, JG, Zhu, Y, Chang, Y, Feng, Q, Fang, X, Guo, X, Jian, M, Jiang, H, Jin, X, Lan, T, Li, G, Li, J, Li, Y, Liu, S, Liu, X, Lu, Y, Ma, X, Tang, M, Wang, B, Wang, G, Wu, H, Wu, R, Xu, X, Yin, Y, Zhang, D, Zhang, W, Zhao, J, Zhao, M, Zheng, X, Gupta, N, Gharani, N, Toji, LH, Gerry, NP, Resch, AM, Barker, J, Clarke, L, Gil, L, Hunt, SE, Kelman, G, Kulesha, E, Leinonen, R, McLaren, WM, Radhakrishnan, R, Roa, A, Smirnov, D, Smith, RE, Streeter, I, Thormann, A, Toneva, I, Vaughan, B, Zheng-Bradley, X, Grocock, R, Humphray, S, James, T, Kingsbury, Z, Sudbrak, R, Albrecht, MW, Amstislavskiy, VS, Borodina, TA, Lienhard, M, Mertes, F, Sultan, M, Timmermann, B, Yaspo, M-L, Fulton, L, Fulton, R, Ananiev, V, Belaia, Z, Beloslyudtsev, D, Bouk, N, Chen, C, Church, D, Cohen, R, Cook, C, Garner, J, Hefferon, T, Kimelman, M, Liu, C, Lopez, J, Meric, P, O'Sullivan, C, Ostapchuk, Y, Phan, L, Ponomarov, S, Schneider, V, Shekhtman, E, Sirotkin, K, Slotta, D, Zhang, H, Balasubramaniam, S, Burton, J, Danecek, P, Keane, TM, Kolb-Kokocinski, A, McCarthy, S, Stalker, J, Quail, M, Davies, CJ, Gollub, J, Webster, T, Wong, B, Zhan, Y, Auton, A, Campbell, CL, Kong, Y, Marcketta, A, Yu, F, Antunes, L, Bainbridge, M, Sabo, A, Huang, Z, Coin, LJM, Fang, L, Li, Q, Li, Z, Lin, H, Liu, B, Luo, R, Shao, H, Xie, Y, Ye, C, Yu, C, Zhang, F, Zheng, H, Zhu, H, Alkan, C, Dal, E, Kahveci, F, Garrison, EP, Kural, D, Lee, W-P, Leong, WF, Stromberg, M, Ward, AN, Wu, J, Zhang, M, Daly, MJ, DePristo, MA, Handsaker, RE, Banks, E, Bhatia, G, del Angel, G, Genovese, G, Li, H, Kashin, S, McCarroll, SA, Nemesh, JC, Poplin, RE, Yoon, SC, Lihm, J, Makarov, V, Gottipati, S, Keinan, A, Rodriguez-Flores, JL, Rausch, T, Fritz, MH, Stuetz, AM, Beal, K, Datta, A, Herrero, J, Ritchie, GRS, Zerbino, D, Sabeti, PC, Shlyakhter, I, Schaffner, SF, Vitti, J, Cooper, DN, Ball, EV, Stenson, PD, Barnes, B, Bauer, M, Cheetham, RK, Cox, A, Eberle, M, Kahn, S, Murray, L, Peden, J, Shaw, R, Kenny, EE, Batzer, MA, Konkel, MK, Walker, JA, MacArthur, DG, Lek, M, Herwig, R, Ding, L, Koboldt, DC, Larson, D, Ye, K, Gravel, S, Swaroop, A, Chew, E, Lappalainen, T, Erlich, Y, Gymrek, M, Willems, TF, Simpson, JT, Shriver, MD, Rosenfeld, JA, Bustamante, CD, Montgomery, SB, De La Vega, FM, Byrnes, JK, Carroll, AW, DeGorter, MK, Lacroute, P, Maples, BK, Martin, AR, Moreno-Estrada, A, Shringarpure, SS, Zakharia, F, Halperin, E, Baran, Y, Cerveira, E, Hwang, J, Malhotra, A, Plewczynski, D, Radew, K, Romanovitch, M, Zhang, C, Hyland, FCL, Craig, DW, Christoforides, A, Homer, N, Izatt, T, Kurdoglu, AA, Sinari, SA, Squire, K, Xiao, C, Sebat, J, Antaki, D, Gujral, M, Noor, A, Burchard, EG, Hernandez, RD, Gignoux, CR, Haussler, D, Katzman, SJ, Kent, WJ, Howie, B, Ruiz-Linares, A, Dermitzakis, ET, Devine, SE, Goncalo, RA, Kang, HM, Kidd, JM, Blackwell, T, Caron, S, Chen, W, Emery, S, Fritsche, L, Fuchsberger, C, Jun, G, Li, B, Lyons, R, Scheller, C, Sidore, C, Song, S, Sliwerska, E, Taliun, D, Tan, A, Welch, R, Wing, MK, Zhan, X, Awadalla, P, Hodgkinson, A, Shi, X, Quitadamo, A, Lunter, G, Marchini, JL, Myers, S, Churchhouse, C, Delaneau, O, Gupta-Hinch, A, Kretzschmar, W, Iqbal, Z, Mathieson, I, Menelaou, A, Rimmer, A, Xifara, DK, Oleksyk, TK, Fu, Y, Xiong, M, Jorde, L, Witherspoon, D, Xing, J, Browning, BL, Browning, SR, Hormozdiari, F, Sudmant, PH, Khurana, E, Tyler-Smith, C, Albers, CA, Ayub, Q, Chen, Y, Colonna, V, Jostins, L, Walter, K, Xue, Y, Gerstein, MB, Abyzov, A, Balasubramanian, S, Chen, J, Clarke, D, Harmanci, AO, Jin, M, Lee, D, Liu, J, Mu, XJ, Zhang, J, Zhang, Y, Del Angel, G, Hartl, C, Shakir, K, Degenhardt, J, Meiers, S, Raeder, B, Casale, FP, Stegle, O, Lameijer, E-W, Hall, I, Bafna, V, Michaelson, J, Gardner, EJ, Mills, RE, Dayama, G, Chen, K, Fan, X, Chong, Z, Chen, T, Chaisson, MJ, Huddleston, J, Malig, M, Nelson, BJ, Parrish, NF, Blackburne, B, Lindsay, SJ, Ning, Z, Lam, H, Sisu, C, Challis, D, Evani, US, Lu, J, Nagaswamy, U, Yu, J, Li, W, Habegger, L, Yu, H, Cunningham, F, Dunham, I, Lage, K, Jespersen, JB, Horn, H, Kim, D, Desalle, R, Narechania, A, Sayres, MAW, Mendez, FL, Poznik, GD, Underhill, PA, Coin, L, Mittelman, D, Banerjee, R, Cerezo, M, Fitzgerald, T, Louzada, S, Massaia, A, Ritchie, GR, Yang, F, Kalra, D, Hale, W, Dan, X, Barnes, KC, Beiswanger, C, Cai, H, Cao, H, Henn, B, Jones, D, Kaye, JS, Kent, A, Kerasidou, A, Mathias, R, Ossorio, PN, Parker, M, Rotimi, CN, Royal, CD, Sandoval, K, Su, Y, Tian, Z, Tishkoff, S, Via, M, Wang, Y, Yang, H, Yang, L, Zhu, J, Bodmer, W, Bedoya, G, Cai, Z, Gao, Y, Chu, J, Peltonen, L, Garcia-Montero, A, Orfao, A, Dutil, J, Martinez-Cruzado, JC, Mathias, RA, Hennis, A, Watson, H, McKenzie, C, Qadri, F, LaRocque, R, Deng, X, Asogun, D, Folarin, O, Happi, C, Omoniwa, O, Stremlau, M, Tariyal, R, Jallow, M, Joof, FS, Corrah, T, Rockett, K, Kwiatkowski, D, Kooner, J, Tran, TH, Dunstan, SJ, Nguyen, TH, Fonnie, R, Garry, R, Kanneh, L, Moses, L, Schieffelin, J, Grant, DS, Gallo, C, Poletti, G, Saleheen, D, Rasheed, A, Brook, LD, Felsenfeld, A, McEwen, JE, Vaydylevich, Y, Duncanson, A, Dunn, M, Schloss, JA, Brooks, LD

العلاقة: pii: nature15393; Altshuler, D. M., Durbin, R. M., Abecasis, G. R., Bentley, D. R., Chakravarti, A., Clark, A. G., Donnelly, P., Eichler, E. E., Flicek, P., Gabriel, S. B., Gibbs, R. A., Green, E. D., Hurles, M. E., Knoppers, B. M., Korbel, J. O., Lander, E. S., Lee, C., Lehrach, H., Mardis, E. R. ,. Abecasis, G. R. (2015). A global reference for human genetic variation. NATURE, 526 (7571), pp.68-+. https://doi.org/10.1038/nature15393Test.; http://hdl.handle.net/11343/261691Test

الإتاحة: https://doi.org/10.1038/nature15393Test
http://hdl.handle.net/11343/261691Test

المؤلفون: Colonna, V, Ayub, Q, Chen, Y, Pagani, L, Luisi, P, Pybus, M, Garrison, E, Xue, Y, Tyler-Smith, C, Abecasis, GR, Auton, A, Brooks, LD, Depristo, MA, Durbin, RM, Handsaker, RE, Kang, HM, Marth, GT, McVean, G, Altshuler, DM, Bentley, DR, Chakravarti, A, Clark, AG, Donnelly, P, Eichler, EE, Flicek, P, Gabriel, SB, Gibbs, RA, Green, ED, Hurles, ME, Knoppers, BM, Korbel, JO, Lander, ES, Lee, C, Lehrach, H, Mardis, ER, McVean, GA, Nickerson, DA, Schmidt, JP, Sherry, ST, Wang, J, Wilson, RK, Dinh, H, Kovar, C, Lee, S, Lewis, L, Muzny, D, Reid, J, Wang, M, Fang, X, Guo, X, Jian, M, Jiang, H, Jin, X, Li, G, Li, J, Li, Y, Li, Z, Liu, X, Lu, Y, Ma, X, Su, Z, Tai, S, Tang, M, Wang, B, Wang, G, Wu, H, Wu, R, Yin, Y, Zhang, W, Zhao, J, Zhao, M, Zheng, X, Zhou, Y, Gupta, N, Clarke, L, Leinonen, R, Smith, RE, Zheng-Bradley, X, Grocock, R, Humphray, S, James, T, Kingsbury, Z, Sudbrak, R, Albrecht, MW, Amstislavskiy, VS, Borodina, TA, Lienhard, M, Mertes, F, Sultan, M, Timmermann, B, Yaspo, ML, Fulton, L, Fulton, R, Weinstock, GM, Balasubramaniam, S, Burton, J, Danecek, P, Keane, TM, Kolb-Kokocinski, A, McCarthy, S

المساهمون: The 1000 Genomes Project Consortium

مصطلحات موضوعية: selective sweep, Levenshtein distance, standing variation, lactase persistence, functional annotation cluster

وصف الملف: 1 - 14; Print-Electronic

العلاقة: Genome Biology; Colonna, V., Ayub, Q., Chen, Y. et al. and the 1000 Genomes Project Consortium. (2014) 'Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences', Genome Biology, 15 (6), R88, pp. 1 - 14. doi:10.1186/gb-2014-15-6-r88.; https://bura.brunel.ac.uk/handle/2438/24428Test; https://doi.org/10.1186/gb-2014-15-6-r88Test

الإتاحة: https://doi.org/10.1186/gb-2014-15-6-r88Test
https://bura.brunel.ac.uk/handle/2438/24428Test